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Socio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood
M. Vasse1, H. Reumaux2, I. Koné-Paut3, P. Quartier4, E. Hachulla5
- Centre Hospitalier Régional Universitaire de Lille, Hôpital Jeanne de Flandre, Lille, France. marina.vasse@gmail.com
- Paediatric Rheumatology Department, Centre Hospitalier Régional Universitaire de Lille, France.
- Paediatric Rheumatology Department and CEREMAIA, Bicêtre Hospital, APHP and University of Paris Saclay, France.
- Centre Hospitalier Universitaire de Necker, APHP, Paediatric Immuno-Haemato-Rheumatology, Paris, Ile de France, France.
- Service de Médecine Interne et Immunologie Clinique, Centre de Référence des Maladies Autoimmunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO), Université de Lille, Inserm, CHU Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, Lille, France.
CER16259
2023 Vol.41, N°10
PI 2039, PF 2043
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PMID: 36912350 [PubMed]
Received: 05/10/2022
Accepted : 28/02/2023
In Press: 09/03/2023
Published: 30/10/2023
Abstract
OBJECTIVES:
Cryopyrin-associated periodic syndromes (CAPS) belongs to the group of hereditary recurrent fever disorders characterised by interleukin1β-mediated systemic inflammation. Specific treatment by IL-1 targeting drugs has significantly modified the disease evolution. We aimed to evaluate the socio-professional impact of CAPS in the long term and the influence of genetic variants in the phenotype.
METHODS:
We made a multicentre, observational and descriptive study and collected retrospective data from childhood to adulthood, and until the last year of follow-up. We assessed the quality of life (QoL) of the patients by phone interviews. We also used the SF36 questionnaire including 8 domains: physical function, physical role, body pain, general health, vitality, social function, emotional role and mental health. A high score means a better QoL.
RESULTS:
Fifty-four patients were evaluated (14 familial cold autoinflammatory syndrome, 27 Muckle-Wells syndrome, 7 chronic infantileneurological cutaneous and articular syndrome. The study showed improvement in symptoms in adulthood and good QoL in all domains apart from school (87%) and work (61%) absenteeism. The MWS group is intermediate in terms of symptoms but seems to describe a better QoL compared to the other groups. The genetic variant alone does not determine the expression of the disease.
CONCLUSIONS:
Our study shows that CAPS patients have an improvement of symptoms in adulthood and a satisfactory QoL for most of them. Anti-IL1 treatment is the main factor linked to this improvement and therefore early initiation should be encouraged.